There are many ways to contribute to research through sharing your experiences. Understanding the progression of these diseases is critical to the development of a clinical trial. You can play a role by participating in natural history studies, registries and other data collection studies. If you are considering participating in a research study, you are welcome to call NTSAD to discuss the benefits and risks. Below are current ways to contribute.
CanInform
A natural history study for Canavan disease sponsored by Aspa Therapeutics.
Construction and Validation of the Infantile onset GM2 Gangliosidosis Rating Scale
The purpose of this study is to develop a virtual clinical assessment tool for infantile onset GM2. Remote assessment via televisits will help reduce travel burden for children/families and allow more frequent clinical assessment. Our aim is to develop a tool to assess potential treatment benefits in clinical trials.
Download the recruitment flyer here.
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders (NIH)
This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis.
PRONTO – Azafaros
A natural history study of GM1 and GM2 (Sandhoff and Tay-Sachs) – Clinical Trial #NCT05109793
Data about the progression of neurological manifestations in the late-infantile or juvenile onset forms of GM1 and GM2 is limited to single patient case reports and small case studies. Taking part in a Natural History study will help collect data in a systematic way, with measurements harmonies between the participating centers. These studies will help in the design of future studies with new future treatments in a more rigorous scientific way.
View video about the study here in either Brazilian Portuguese, French, German, Italian, English (UK), English (United States).
UPenn – Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients
A natural history study of GM1 gangliosidosis sponsored by Passage Bio.
Need Help?
If you have questions or need more information about research to support your individual or family decisions, please email Family Support and Outreach Manager Becky Benson (becky@ntsad.org).
